Locus Specific Mutation Databases

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 International Symposium on Variants in the Genome - Variant Detection 2020, Piran Slovenia
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116 entries on 2 pages. Showing entries 1 - 100.
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AscendingSymbol     
Database name     
Curators     
Unique variants     
Linked diseases     
Software     
Last updated     
QARS BIPMed SNP Array
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray/genes/QARS		 Admin
BRAINN		 - - LOVD 3.X 2017-10-26
QARS Global Variome shared LOVD
https://databases.lovd.nl/shared/genes/QARS		 LOVD-team, but with Curator vacancy
LUMC		 - - LOVD 3.X 2016-12-16
QARS BIPMed SNP Array - HG19
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray_hg19/genes/QARS		 Admin
BRAINN		 - - LOVD 3.X 2018-11-12
QARS BIPMed WES - HG19
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/wes_hg19/genes/QARS		 Admin
BRAINN		 - - LOVD 3.X 2019-11-01
QARS LOVD - Leiden Open Variation Database
Not curated, does not accept submissions
http://proteomics.bio21.unimelb.edu.au/lovd/genes/QARS		 Graham Taylor
University of Melbourne		 - - LOVD 3.X 2013-06-17
QARS BIPMed SNP Array - HG38
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray_296/genes/QARS		 Admin
BRAINN		 - - LOVD 3.X 2019-11-01
QARS1 ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=QARS1[gene]
- - ClinVar 2020-01-06
QDPR BIPMed WES - HG19
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/wes_hg19/genes/QDPR		 Admin
BRAINN		 - - LOVD 3.X 2019-11-01
QDPR BIPMed SNP Array
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray/genes/QDPR		 Admin
BRAINN		 - - LOVD 3.X 2017-10-26
QDPR BIPMed SNP Array - HG38
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray_296/genes/QDPR		 Admin
BRAINN		 - - LOVD 3.X 2019-11-01
QDPR ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=QDPR[gene]
- - ClinVar 2020-01-06
QDPR Global Variome shared LOVD
https://databases.lovd.nl/shared/genes/QDPR		 LOVD-team, but with Curator vacancy
LUMC		 - - LOVD 3.X Unknown
QDPR BIPMed SNP Array - HG19
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray_hg19/genes/QDPR		 Admin
BRAINN		 - - LOVD 3.X 2018-10-16
QDPR Quinoid Dihydropteridinereductase deficiency- BIOMED database
http://www.bh4.org/		 Nenad Blaul, ZurichJ.L. Dhont, I. Dianzani
University Children's Hospital Heidelberg, Germany
Faculté libre de Médicine, Lille, France
Univ.Torino, Torino, Italy
 - - Other Unknown
QDPR LOVD - Leiden Open Variation Database
Not curated, does not accept submissions
http://proteomics.bio21.unimelb.edu.au/lovd/genes/QDPR		 Graham Taylor
University of Melbourne		 - - LOVD 3.X 2013-06-15
QKI BIPMed SNP Array
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray/genes/QKI		 Admin
BRAINN		 - - LOVD 3.X 2017-10-26
QKI BIPMed WES - HG19
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/wes_hg19/genes/QKI		 Admin
BRAINN		 - - LOVD 3.X 2019-11-01
QKI ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=QKI[gene]
- - ClinVar 2019-10-01
QKI BIPMed SNP Array - HG38
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray_296/genes/QKI		 Admin
BRAINN		 - - LOVD 3.X 2019-11-01
QKI BIPMed SNP Array - HG19
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray_hg19/genes/QKI		 Admin
BRAINN		 - - LOVD 3.X 2018-10-09
QKI Global Variome shared LOVD
https://databases.lovd.nl/shared/genes/QKI		 LOVD-team, but with Curator vacancy
LUMC		 - - LOVD 3.X 2017-04-11
QPCT BIPMed SNP Array
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray/genes/QPCT		 Admin
BRAINN		 - - LOVD 3.X 2017-10-26
QPCT ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=QPCT[gene]
- - ClinVar 2020-01-06
QPCT BIPMed SNP Array - HG38
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray_296/genes/QPCT		 Admin
BRAINN		 - - LOVD 3.X 2019-11-01
QPCT LOVD - Leiden Open Variation Database
Not curated, does not accept submissions
http://proteomics.bio21.unimelb.edu.au/lovd/genes/QPCT		 Graham Taylor
University of Melbourne		 - - LOVD 3.X 2013-06-18
QPCT BIPMed SNP Array - HG19
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray_hg19/genes/QPCT		 Admin
BRAINN		 - - LOVD 3.X 2018-10-05
QPCT BIPMed WES - HG19
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/wes_hg19/genes/QPCT		 Admin
BRAINN		 - - LOVD 3.X 2019-11-01
QPCT Global Variome shared LOVD
https://databases.lovd.nl/shared/genes/QPCT		 LOVD-team, but with Curator vacancy
LUMC		 - - LOVD 3.X 2019-07-12
QPCTL BIPMed SNP Array
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray/genes/QPCTL		 Admin
BRAINN		 - - LOVD 3.X 2017-10-26
QPCTL ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=QPCTL[gene]
- - ClinVar 2020-01-06
QPCTL BIPMed SNP Array - HG19
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray_hg19/genes/QPCTL		 Admin
BRAINN		 - - LOVD 3.X 2018-11-16
QPCTL BIPMed SNP Array - HG38
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray_296/genes/QPCTL		 Admin
BRAINN		 - - LOVD 3.X 2019-11-01
QPCTL Global Variome shared LOVD
https://databases.lovd.nl/shared/genes/QPCTL		 LOVD-team, but with Curator vacancy
LUMC		 - - LOVD 3.X Unknown
QPCTL LOVD - Leiden Open Variation Database
Not curated, does not accept submissions
http://proteomics.bio21.unimelb.edu.au/lovd/genes/QPCTL		 Graham Taylor
University of Melbourne		 - - LOVD 3.X 2013-06-11
QPCTL Iran Variation Database
Not curated, does not accept submissions
http://genet.ir/variome/genes/QPCTL		 Saeed Reza Ghaffari
Clinical Genetics Network		 - - LOVD 3.X 2015-12-11
QPCTL BIPMed WES - HG19
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/wes_hg19/genes/QPCTL		 Admin
BRAINN		 - - LOVD 3.X 2019-11-01
QPRT BIPMed SNP Array
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray/genes/QPRT		 Admin
BRAINN		 - - LOVD 3.X 2017-10-26
QPRT ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=QPRT[gene]
- - ClinVar 2020-01-06
QPRT BIPMed WES - HG19
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/wes_hg19/genes/QPRT		 Admin
BRAINN		 - - LOVD 3.X 2019-11-01
QPRT Global Variome shared LOVD
https://databases.lovd.nl/shared/genes/QPRT		 LOVD-team, but with Curator vacancy
LUMC		 - - LOVD 3.X Unknown
QPRT BIPMed SNP Array - HG19
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray_hg19/genes/QPRT		 Admin
BRAINN		 - - LOVD 3.X 2018-10-04
QPRT BIPMed SNP Array - HG38
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray_296/genes/QPRT		 Admin
BRAINN		 - - LOVD 3.X 2019-11-01
QPRT LOVD - Leiden Open Variation Database
Not curated, does not accept submissions
http://proteomics.bio21.unimelb.edu.au/lovd/genes/QPRT		 Graham Taylor
University of Melbourne		 - - LOVD 3.X 2013-06-12
QPRT Iran Variation Database
Not curated, does not accept submissions
http://genet.ir/variome/genes/QPRT		 Saeed Reza Ghaffari
Clinical Genetics Network		 - - LOVD 3.X 2015-12-10
QRFP LOVD - Leiden Open Variation Database
Not curated, does not accept submissions
http://proteomics.bio21.unimelb.edu.au/lovd/genes/QRFP		 Graham Taylor
University of Melbourne		 - - LOVD 3.X 2013-06-13
QRFP BIPMed SNP Array
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray/genes/QRFP		 Admin
BRAINN		 - - LOVD 3.X 2017-10-26
QRFP ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=QRFP[gene]
- - ClinVar 2020-01-06
QRFP BIPMed SNP Array - HG19
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray_hg19/genes/QRFP		 Admin
BRAINN		 - - LOVD 3.X 2018-11-21
QRFP BIPMed SNP Array - HG38
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray_296/genes/QRFP		 Admin
BRAINN		 - - LOVD 3.X 2019-11-01
QRFP Global Variome shared LOVD
https://databases.lovd.nl/shared/genes/QRFP		 LOVD-team, but with Curator vacancy
LUMC		 - - LOVD 3.X Unknown
QRFP BIPMed WES - HG19
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/wes_hg19/genes/QRFP		 Admin
BRAINN		 - - LOVD 3.X 2019-11-01
QRFPR BIPMed WES - HG19
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/wes_hg19/genes/QRFPR		 Admin
BRAINN		 - - LOVD 3.X 2019-11-01
QRFPR BIPMed SNP Array
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray/genes/QRFPR		 Admin
BRAINN		 - - LOVD 3.X 2017-10-26
QRFPR ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=QRFPR[gene]
- - ClinVar 2019-08-05
QRFPR BIPMed SNP Array - HG19
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray_hg19/genes/QRFPR		 Admin
BRAINN		 - - LOVD 3.X 2018-10-07
QRFPR Global Variome shared LOVD
https://databases.lovd.nl/shared/genes/QRFPR		 LOVD-team, but with Curator vacancy
LUMC		 - - LOVD 3.X Unknown
QRFPR BIPMed SNP Array - HG38
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray_296/genes/QRFPR		 Admin
BRAINN		 - - LOVD 3.X 2019-11-01
QRFPR NDDVD - Neurodegenerative Diseases Variation Database
http://bioinf.suda.edu.cn/NDDvarbase/LOVDv.3.0/genes/QRFPR		 XY Liu
SUDA		 - - LOVD 3.X 2017-12-14
QRFPR LOVD - Leiden Open Variation Database
Not curated, does not accept submissions
http://proteomics.bio21.unimelb.edu.au/lovd/genes/QRFPR		 Graham Taylor
University of Melbourne		 - - LOVD 3.X 2013-06-17
QRFPR Iran Variation Database
Not curated, does not accept submissions
http://genet.ir/variome/genes/QRFPR		 Saeed Reza Ghaffari
Clinical Genetics Network		 - - LOVD 3.X 2015-12-10
QRICH1 BIPMed SNP Array
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray/genes/QRICH1		 Admin
BRAINN		 - - LOVD 3.X 2017-10-26
QRICH1 ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=QRICH1[gene]
- - ClinVar 2020-01-06
QRICH1 Global Variome shared LOVD
https://databases.lovd.nl/shared/genes/QRICH1		 LOVD-team, but with Curator vacancy
LUMC		 - - LOVD 3.X Unknown
QRICH1 BIPMed SNP Array - HG19
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray_hg19/genes/QRICH1		 Admin
BRAINN		 - - LOVD 3.X 2018-11-12
QRICH1 BIPMed WES - HG19
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/wes_hg19/genes/QRICH1		 Admin
BRAINN		 - - LOVD 3.X 2019-11-01
QRICH1 BIPMed SNP Array - HG38
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray_296/genes/QRICH1		 Admin
BRAINN		 - - LOVD 3.X 2019-11-01
QRICH1 LOVD - Leiden Open Variation Database
Not curated, does not accept submissions
http://proteomics.bio21.unimelb.edu.au/lovd/genes/QRICH1		 Graham Taylor
University of Melbourne		 - - LOVD 3.X 2013-06-17
QRICH2 Iran Variation Database
Not curated, does not accept submissions
http://genet.ir/variome/genes/QRICH2		 Saeed Reza Ghaffari
Clinical Genetics Network		 - - LOVD 3.X 2015-12-10
QRICH2 BIPMed SNP Array
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray/genes/QRICH2		 Admin
BRAINN		 - - LOVD 3.X 2017-10-26
QRICH2 ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=QRICH2[gene]
- - ClinVar 2019-10-01
QRICH2 Global Variome shared LOVD
https://databases.lovd.nl/shared/genes/QRICH2		 LOVD-team, but with Curator vacancy
LUMC		 - - LOVD 3.X Unknown
QRICH2 BIPMed WES - HG19
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/wes_hg19/genes/QRICH2		 Admin
BRAINN		 - - LOVD 3.X 2019-11-01
QRICH2 LOVD - Leiden Open Variation Database
Not curated, does not accept submissions
http://proteomics.bio21.unimelb.edu.au/lovd/genes/QRICH2		 Graham Taylor
University of Melbourne		 - - LOVD 3.X 2013-06-11
QRICH2 BIPMed SNP Array - HG38
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray_296/genes/QRICH2		 Admin
BRAINN		 - - LOVD 3.X 2019-11-01
QRICH2 BIPMed SNP Array - HG19
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray_hg19/genes/QRICH2		 Admin
BRAINN		 - - LOVD 3.X 2018-10-12
QRSL1 BIPMed SNP Array
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray/genes/QRSL1		 Admin
BRAINN		 - - LOVD 3.X 2017-10-26
QRSL1 ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=QRSL1[gene]
- - ClinVar 2020-01-06
QRSL1 LOVD - Leiden Open Variation Database
Not curated, does not accept submissions
http://proteomics.bio21.unimelb.edu.au/lovd/genes/QRSL1		 Graham Taylor
University of Melbourne		 - - LOVD 3.X 2013-08-02
QRSL1 BIPMed SNP Array - HG38
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray_296/genes/QRSL1		 Admin
BRAINN		 - - LOVD 3.X 2019-11-01
QRSL1 BIPMed SNP Array - HG19
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray_hg19/genes/QRSL1		 Admin
BRAINN		 - - LOVD 3.X 2018-10-08
QRSL1 BIPMed WES - HG19
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/wes_hg19/genes/QRSL1		 Admin
BRAINN		 - - LOVD 3.X 2019-11-01
QRSL1 Global Variome shared LOVD
https://databases.lovd.nl/shared/genes/QRSL1		 LOVD-team, but with Curator vacancy
LUMC		 - - LOVD 3.X 2017-11-10
QSER1 BIPMed SNP Array - HG19
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray_hg19/genes/QSER1		 Admin
BRAINN		 - - LOVD 3.X 2018-11-18
QSER1 LOVD - Leiden Open Variation Database
Not curated, does not accept submissions
http://proteomics.bio21.unimelb.edu.au/lovd/genes/QSER1		 Graham Taylor
University of Melbourne		 - - LOVD 3.X 2013-06-13
QSER1 BIPMed SNP Array
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray/genes/QSER1		 Admin
BRAINN		 - - LOVD 3.X 2017-10-26
QSER1 ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=QSER1[gene]
- - ClinVar 2020-01-06
QSER1 Global Variome shared LOVD
https://databases.lovd.nl/shared/genes/QSER1		 LOVD-team, but with Curator vacancy
LUMC		 - - LOVD 3.X Unknown
QSER1 BIPMed WES - HG19
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/wes_hg19/genes/QSER1		 Admin
BRAINN		 - - LOVD 3.X 2019-11-01
QSER1 Iran Variation Database
Not curated, does not accept submissions
http://genet.ir/variome/genes/QSER1		 Saeed Reza Ghaffari
Clinical Genetics Network		 - - LOVD 3.X 2015-12-12
QSER1 BIPMed SNP Array - HG38
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray_296/genes/QSER1		 Admin
BRAINN		 - - LOVD 3.X 2019-11-01
QSOX1 BIPMed SNP Array
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray/genes/QSOX1		 Admin
BRAINN		 - - LOVD 3.X 2017-10-26
QSOX1 BIPMed SNP Array - HG19
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray_hg19/genes/QSOX1		 Admin
BRAINN		 - - LOVD 3.X 2018-09-30
QSOX1 LOVD - Leiden Open Variation Database
Not curated, does not accept submissions
http://proteomics.bio21.unimelb.edu.au/lovd/genes/QSOX1		 Graham Taylor
University of Melbourne		 - - LOVD 3.X 2013-06-18
QSOX1 ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=QSOX1[gene]
- - ClinVar 2020-01-06
QSOX1 BIPMed SNP Array - HG38
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray_296/genes/QSOX1		 Admin
BRAINN		 - - LOVD 3.X 2019-11-01
QSOX1 Global Variome shared LOVD
https://databases.lovd.nl/shared/genes/QSOX1		 LOVD-team, but with Curator vacancy
LUMC		 - - LOVD 3.X Unknown
QSOX1 BIPMed WES - HG19
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/wes_hg19/genes/QSOX1		 Admin
BRAINN		 - - LOVD 3.X 2019-11-01
QSOX2 Iran Variation Database
Not curated, does not accept submissions
http://genet.ir/variome/genes/QSOX2		 Saeed Reza Ghaffari
Clinical Genetics Network		 - - LOVD 3.X 2015-12-10
QSOX2 LOVD - Leiden Open Variation Database
Not curated, does not accept submissions
http://proteomics.bio21.unimelb.edu.au/lovd/genes/QSOX2		 Graham Taylor
University of Melbourne		 - - LOVD 3.X 2013-06-13
QSOX2 BIPMed SNP Array
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray/genes/QSOX2		 Admin
BRAINN		 - - LOVD 3.X 2017-10-26
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